Case Report Ann Clin Neurophysiol 2018;20(2):85-88 https://doi.org/10.14253/acn.2018.20.2.85 Annals of Clinical Neurophysiology

Septo-optic dysplasia plus diagnosed in a middle-aged woman

Seung Tae Oh, Mi-Ri Kang, Seong-il Oh, Eung Gyu Kim, Sang Jin Kim, Jung Hwa Seo, Eun Joo Chung, and Ki-Hwan Ji Department of , Busan Paik Hospital, Inje University College of Medicine, Busan, Korea

Septo-optic dysplasia is a congenital anomaly with diverse phenotypes from normal to mix- tures of visual abnormality, endocrine dysfunction, psychomotor retardations and epileptic Received: January 29, 2018 . It is characterized by optic atrophy, pituitary dysfunction and midline structure ab- Revised: May 18, 2018 normalities in corpus callosum or septum pellucidum. Diagnosis of septo-optic dysplasia plus Accepted: June 17, 2018 is made when cortical malformations accompanied. Here we report a middle-aged woman with septo-optic dysplasia plus having unilateral optic atrophy, agenesis of septum pellucid- um and cortical malformations.

Key words: Septo-optic dysplasia; Optic atrophy; Congenital abnormalities

Septo-optic dysplasia (SOD) is a congenital anomaly and distinctive of optic nerve dyspla- Correspondence to sia, pituitary dysfunction, and anomalies in midline structures such as corpus callo- Ki-Hwan Ji 1 Department of Neurology, Busan Paik sum and septum pellucidum. In most cases, SOD is diagnosed during the investigation 2 Hospital, Inje University College of of strabismus, seizures, developmental delay and cerebral palsy in infancy. The diagnosis Medicine, 75 Bokji-ro, Busanjin-gu, Busan of SOD-plus can be made when SOD accompanied by cortical malformations.3,4 Patients 47392, Korea with SOD-plus are more likely having focal neurologic deficits and seizures than SOD.4,5 Tel: +82-51-890-8613 Fax: +82-51-890-6130 The authors experienced a middle-aged SOD-plus patient complaining headache, dizzi- E-mail: [email protected] ness and having complex partial seizures with unilateral optic atrophy, agenesis of septum pellucidum and cortical malformations such as , lissencephaly, and gray matter heterotopia.

Case

A 48-year-old woman came to the hospital with a headache and dizziness from a month ago. The pain was squeezing, moderate to severe intensity (Numerical Rating Scale, 6), and localized in the left temporomandibular region. It came ten or more times per day, and it lasted for 10-20 minutes. Dizziness, which was non-rotatory and non-positional was asso-

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ciated with a headache occasionally, but nausea, vomiting, low visual acuity of the right eye since early childhood but photophobia or phonophobia was not. Physical exertion did did not complain another visual symptom. Neurological not worsen a headache. examination revealed suspicious temporal hemianopsia and In medical history, she had seizures in her childhood but relative afferent pupillary defect in the right eye. We referred she denied of family history in her parents, little sister, and her to ophthalmology department for further evaluation. two sons. She also denied history of developmental delay. The visual acuity without correction was 0.3 in the right eye Her highest level of education was high school. During and 0.4 in the left eye. Optic disc was atrophic in the right interview she answered to physician’s questions fluently eye (Fig. 1A). Optical coherence tomography revealed a with appropriate manner. She had taken antiepileptic drugs decrease in the thickness of the regional nerve fiber layer in irregularly and stopped medication at nineteen years old the right eye, which suggested right optic nerve dysplasia. by herself. The patient did not know whether she had taken There was no strabismus or nystagmus. Humphrey visual brain images in childhood. Although she had seizures occa- field test was unreliable considering her high fixation losses sionally in her twenties, she has not received treatment. The during test but it suggested right temporal hemianopsia. patient reported that there was no clinical in recent Visual evoked potential (VEP) test showed bilateral P100 la- years, but a son of the patient said that she had occasionally tency prolongation in pattern VEPs suggested bilateral visual become unresponsive for a while. She stated that she had a pathway dysfunction. Brain magnetic resonance imaging

Fig. 1. Fundus photo (A) and brain MRI (B-D). (A) Relative disc pallor in the right eye compared to the left. (B) Lissencephaly (thick arrow), gray matter heteroto- pia (thin arrow) and absent of septum pellucidum on coronal short tau inversion recovery fluid-attenuated inversion recovery MRI. (C) Schizencephaly (thick arrow) on axial fluid-attenuated recovery MRI. (D) Hypoplasia of right optic nerve (arrow head) on T2 axial MRI. MRI, magnetic resonance imaging.

86 https://doi.org/10.14253/acn.2018.20.2.85 http://www.e-acn.org Seung Tae Oh, et al. SOD plus

showed agenesis of septum pellucidum, schizencephaly, main symptoms like a headache and dizziness in SOD or lissencephaly, and gray matter heterotopias (Fig. 1B, C). Right SOD-plus. optic atrophy was also detected (Fig. 1D). Electroencepha- It is more likely that patients have no developmental delay lography showed intermittent slowings in the right anterior if there is unilateral optic nerve hypoplasia or absent pituitary temporal region. dysfunction.6 Moreover, the literature suggests patient with We concluded the patient had SOD-plus and added con- SOD-plus show more heterogeneous neurodevelopmental trolled-release carbamazepine to control the seizure. We outcomes than SOD.5 Our patient had multiple cortical mal- recommended hormone testing, but she and her family re- formations including schizencephaly, lissencephaly, and gray fused further evaluation and just wanted symptom control. matter heterotopy but she had no developmental prob- A several months later, she notified us the results of some lems and evident endocrinological abnormality. Although laboratory workup done in another hospital including com- drug-resistant epilepsy may be related to cortical malfor- plete blood count, serum electrolyte, glucose, liver function, mations of SOD-plus,7 seizures of our patient had been wax renal function and hormonal function including adreno- and waned even without antiepileptic medication and have corticotrophic hormone and thyroid stimulating hormone, responded excellently to a low dose of controlled-release which were within normal range. After antiepileptic therapy carbamazepine. The patient with SOD-plus is more likely to (controlled-release carbamazepine 200 mg twice a day), our have various epileptic prognosis but less likely to have endo- patient had no seizure attack, but her symptoms of a head- crinological abnormality than SOD.5,7 SOD-plus is a rare and ache or dizziness have been unchanged. highly heterogeneous disorder that can be diagnosed in an adult. There are some points to address in this case. We ex- Discussion amined her hormonal function incompletely and failed to evaluate her cognitive function with a proper neuropsy- SOD is a rare congenital central malforma- chological test. We overlooked the necessity of cognitive tion, and the incidence of SOD is estimated at 1 in 10,000 evaluation because she showed fluency in the expression of live births.2 Although SOD may show a variety of neurolog- her symptoms and did not complain about cognition and ical development from normal to autism, and epileptic sei- psychomotor function. Therefore it is possible that we have zures,5 most patients with SOD are diagnosed in infancy and missed a subtle hormonal and neuropsychological dysfunc- childhood. Developmental disruption of the forebrain in the tion. embryonic period of 4-6 weeks of gestation is considered In conclusion, the present case report demonstrates that to cause SOD.2 SOD is sporadic, but rarely familial SOD has a patient with SOD-plus may have subtle manifestations been reported.1 Especially, SOD-plus patients accompanied when a patient has unilateral optic nerve hypoplasia and by cortical malformations are more likely to have neurolog- no evident endocrine dysfunction. As a diagnosis of SOD is ical manifestations such as psychomotor developmental mainly dependent on clinician’s suspicions, various combi- delay, motor deficits or seizure.4,5 Therefore, a few have nations of symptoms such as poor visual acuity, history of reported incidental diagnoses made as SOD-plus after brain developmental delay, endocrine disorders, psychomotor image in adulthood showing subtle neurological symptoms. retardations, and epileptic seizures should be assessed ra- Our patient had decreased visual acuity and seizures since diologically. childhood but had no evident sign of psychomotor delay, motor deficit, and hormonal abnormalities. We can diagnose the patient as SOD-plus only after the brain MRI revealed REFERENCES the characteristics brain abnormalities such as agenesis of septum pellucidum and cortical malformations. Our patient 1. Kelberman D, Dattani MT. of septo-optic dysplasia. Pitu- visited the hospital because of a headache and associated itary 2007;10:393-407. dizziness, but in the literature, there is a lack of reporting 2. Webb EA, Dattani MT. Septo-optic dysplasia. Eur J Hum Genet

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